Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320370C>G , CM000667.2:g.159320370C>G | GRCh38 |
| NC_000005.9:g.158747378C>G , CM000667.1:g.158747378C>G | GRCh37 |
| NC_000005.8:g.158679956C>G | NCBI36 |
| NG_009618.1:g.15104G>C , LRG_71:g.15104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.3G>C | ENSP00000512849.1:p.Met1Ile | |
| ENST00000696751.1:c.*128G>C | ENSP00000512850.1:n.*128G>C | |
| ENST00000231228.3:c.633G>C MANE Select | ENSP00000231228.2:p.Met211Ile | |
| ENST00000231228.2:c.633G>C | ENSP00000231228.2:p.Met211Ile | |
| NM_002187.2:c.633G>C , LRG_71t1:c.633G>C | NP_002178.2:p.Met211Ile | |
| NM_002187.3:c.633G>C MANE Select | NP_002178.2:p.Met211Ile |